Variant report

Variant	rs58902106
Chromosome Location	chr1:152158239-152158240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152158172-152158319	H1-hESC	embryonic stem cell:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
2	RCOR1	chr1:152158145-152158808	K562	blood:	n/a	n/a
3	CTCF	chr1:152158101-152158384	Gliobla	brain:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
4	CTCF	chr1:152158139-152158363	MCF-7	breast:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
5	CTCF	chr1:152158136-152158374	Kidney_OC	kidney:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
6	CTCF	chr1:152158027-152158420	H1-hESC	embryonic stem cell:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
7	RAD21	chr1:152157791-152158624	MCF-7	breast:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
8	CTCF	chr1:152158025-152158451	K562	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
9	CTCF	chr1:152158160-152158310	HRE	kidney:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
10	CTCF	chr1:152158180-152158330	GM12871	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
11	CTCF	chr1:152158180-152158330	HepG2	liver:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
12	FOXA2	chr1:152157822-152158516	A549	lung:	n/a	n/a
13	FOXA1	chr1:152157977-152158366	T-47D	breast:	n/a	chr1:152158188-152158203
14	SMC3	chr1:152157482-152158567	SK-N-SH	brain:	n/a	chr1:152158236-152158243 chr1:152158231-152158245 chr1:152158229-152158243
15	CTCF	chr1:152158220-152158370	NB4	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
16	CTCF	chr1:152158180-152158330	GM12875	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
17	CTCF	chr1:152158160-152158310	AG04449	skin:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
18	CTCF	chr1:152158100-152158250	HVMF	connective:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
19	RAD21	chr1:152158111-152158292	K562	blood:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
20	FOXA1	chr1:152157932-152158470	T-47D	breast:	n/a	chr1:152158188-152158203
21	GTF2F1	chr1:152158036-152158420	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr1:152158160-152158310	HPF	lung:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
23	CTCF	chr1:152158140-152158290	AoAF	blood vessel:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
24	CTCF	chr1:152157740-152158659	MCF-7	breast:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
25	RAD21	chr1:152158032-152158434	A549	lung:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
26	CTCF	chr1:152158140-152158290	HVMF	connective:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
27	CTCF	chr1:152158140-152158290	GM12873	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
28	RAD21	chr1:152158105-152158378	K562	blood:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
29	SMC3	chr1:152158029-152158420	K562	blood:	n/a	chr1:152158236-152158243 chr1:152158231-152158245 chr1:152158229-152158243
30	CTCF	chr1:152158160-152158310	HCM	heart:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
31	CTCF	chr1:152158180-152158330	A549	lung:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
32	CTCF	chr1:152158125-152158369	MCF-7	breast:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
33	CTCF	chr1:152158160-152158310	GM12867	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
34	CTCF	chr1:152158180-152158330	GM12869	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
35	RAD21	chr1:152157784-152158649	HCT-116	colon:	n/a	chr1:152158234-152158243 chr1:152158225-152158244
36	FOXA1	chr1:152158041-152158422	HepG2	liver:	n/a	chr1:152158188-152158203
37	JUND	chr1:152158105-152158385	K562	blood:	n/a	n/a
38	MAZ	chr1:152158062-152158390	K562	blood:	n/a	chr1:152158144-152158151
39	CTCF	chr1:152157979-152158502	A549	lung:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
40	CTCF	chr1:152158160-152158310	GM12869	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
41	CTCF	chr1:152158106-152158381	MCF-7	breast:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
42	ZNF143	chr1:152158090-152158698	K562	blood:	n/a	n/a
43	ZNF384	chr1:152158175-152158240	GM12878	blood:	n/a	n/a
44	GTF2F1	chr1:152158157-152158306	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:152158065-152158366	T-47D	breast:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
46	MYC	chr1:152158191-152158273	MCF-7	breast:	n/a	n/a
47	FOXA2	chr1:152158026-152158376	HepG2	liver:	n/a	n/a
48	CTCF	chr1:152158066-152158358	HepG2	liver:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
49	CTCF	chr1:152158160-152158310	GM12865	blood:	n/a	chr1:152158233-152158242 chr1:152158227-152158245
50	CTCF	chr1:152158140-152158290	HA-sp	spinal cord:	n/a	chr1:152158233-152158242 chr1:152158227-152158245

No.	Distal block	Cell Line	Cell type
1	chr1:152146040..152146767-chr1:152158008..152158869,2	MCF-7	breast:
2	chr1:152134776..152137456-chr1:152158070..152159626,2	MCF-7	breast:
3	chr1:152114200..152115148-chr1:152157747..152158687,7	MCF-7	breast:
4	chr1:152019280..152022241-chr1:152158199..152159815,3	K562	blood:
5	chr1:152116303..152118943-chr1:152156777..152158919,2	MCF-7	breast:
6	chr1:152111690..152113718-chr1:152156883..152160461,3	MCF-7	breast:
7	chr1:152006732..152007276-chr1:152157793..152158293,2	MCF-7	breast:
8	chr1:152024529..152025807-chr1:152157754..152158654,6	MCF-7	breast:
9	chr1:152033820..152035009-chr1:152157797..152158750,5	MCF-7	breast:
10	chr1:152024636..152025993-chr1:152157493..152159185,17	MCF-7	breast:
11	chr1:152023865..152025668-chr1:152157560..152159687,2	MCF-7	breast:
12	chr1:152156496..152159778-chr1:152417500..152420866,3	MCF-7	breast:
13	chr1:152024794..152025624-chr1:152157743..152158320,3	K562	blood:
14	chr1:151906229..151907160-chr1:152157830..152158806,4	K562	blood:
15	chr1:152113593..152115138-chr1:152157487..152158735,36	MCF-7	breast:

Variant related genes	Relation type
FLG-AS1	TF binding region
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16833872	1.00[AFR][1000 genomes]
rs16833905	0.87[AFR][1000 genomes]
rs57755124	0.87[AFR][1000 genomes]
rs61224006	0.87[AFR][1000 genomes]
rs6656091	0.87[AFR][1000 genomes]
rs6679991	0.87[AFR][1000 genomes]
rs72995326	1.00[AFR][1000 genomes]
rs72995348	0.87[AFR][1000 genomes]
rs72995355	0.87[AFR][1000 genomes]
rs72995357	0.87[AFR][1000 genomes]
rs72995369	0.87[AFR][1000 genomes]
rs73003220	0.87[AFR][1000 genomes]
rs73003224	0.87[AFR][1000 genomes]
rs73003225	0.87[AFR][1000 genomes]
rs73003241	0.87[AFR][1000 genomes]
rs73003247	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv547854	chr1:152145661-152165878	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152151800-152158600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:152152200-152161200	Weak transcription	Right Atrium	heart
3	chr1:152153800-152159800	Enhancers	HMEC	breast
4	chr1:152154000-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152154400-152161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:152154600-152160200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:152154600-152160400	Enhancers	Colon Smooth Muscle	Colon
8	chr1:152155600-152160200	Enhancers	NHEK	skin
9	chr1:152156000-152161200	Weak transcription	A549	lung
10	chr1:152156000-152161200	Weak transcription	HSMM	muscle
11	chr1:152157600-152159400	Weak transcription	Esophagus	oesophagus
12	chr1:152157800-152161200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:152158000-152161200	Weak transcription	NHDF-Ad	bronchial
14	chr1:152158200-152159000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:152158200-152159400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:152158200-152159400	Weak transcription	Osteobl	bone
17	chr1:152158200-152160600	Enhancers	Hela-S3	cervix
18	chr1:152158200-152161000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:152158200-152161000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:152158200-152161400	Weak transcription	NH-A	brain

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